Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

Annals of Neurology

Volumn 50, Issue 4, 2001, Pages 540-543

  Wibrand, Flemming ^a   Ravn, Kirstine ^a   Schwartz, Marianne ^a   Rosenberg, Thomas ^a   Horn, Nina ^a   Vissing, John ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; CYTOCHROME B; MITOCHONDRIAL DNA; MUSCLE ENZYME; TYROSINE; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CATARACT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; EXERCISE; FEMALE; GENETIC DISORDER; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; LEUKOCYTE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINITIS PIGMENTOSA;

ADULT; CYTOCHROME B GROUP; DNA, MITOCHONDRIAL; EPILEPSY; FEMALE; HEARING LOSS, BILATERAL; HUMANS; MENTAL RETARDATION; MUSCULAR DISEASES; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RETINITIS PIGMENTOSA;

EID: 0034797268     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1224     Document Type: Article

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